Fetal phenotype of CHARGE syndrome with a molecular confirmation: a series of 13 cases.

Introduction CHARGE syndrome is an autosomal dominant genetic disorder with known pattern of features. The aim of the study was to present the fetal features of CHARGE syndrome to gain awareness that the antenatal characteristics can be very nonspecific. Case Presentation This was a retrospective study of 13 cases with CHARGE syndrome diagnosed by prenatal or postnatal genetic testing and physical examination. Two (15.4%; 2/13) had normal ultrasound scans during pregnancy. One (7.7%; 1/13) with first-trimester cystic hygroma presented intrauterine fetal demise (IUFD) at 16 weeks gestation. The remaining 10 (76.9%; 10/13) cases had abnormal ultrasound features in utero; among these, 1 had an increased nuchal translucency in the first trimester, 5 had second-trimester abnormal ultrasounds including micrognathia, cardiac defects and facial defects, and 4 third-trimester abnormal ultrasounds including micrognathia, isolated fetal growth restriction and polyhydramnios. Among the 11 cases with abnormal prenatal ultrasound scans, no fetus could reach the diagnostic criteria of CHARGE syndrome if only based on the results of ultrasound. However, the diagnosis was made in all cases when CHD7 defects were detected. Discussion/Conclusion The CHARGE syndrome presents non-specific abnormal ultrasound markers in utero. Exome sequencing in the genetic work up will aid in prenatal diagnosis of this syndrome.

Single-cell RNA sequencing reveals cellular and molecular landscape of fetal cystic hygroma.

BACKGROUND: The molecular mechanism of fetal cystic hygroma (CH) is still unclear, and no study has previously reported the transcriptome changes of single cells in CH. In this study, single-cell transcriptome sequencing (scRNA-seq) was used to investigate the characteristics of cell subsets in the lesion tissues of CH patients. METHODS: Lymphoid tissue collected from CH patients and control donors for scRNA-seq analysis. Differentially expressed gene enrichment in major cell subpopulations as well as cell-cell communication were analyzed. At the same time, the expression and interactions of important VEGF signaling pathway molecules were analyzed, and potential transcription factors that could bind to KDR (VEGFR2) were predicted. RESULTS: The results of scRNA-seq showed that fibroblasts accounted for the largest proportion in the lymphatic lesions of CH patients. There was a significant increase in the proportion of lymphatic endothelial cell subsets between the cases and controls. The VEGF signaling pathway is enriched in lymphatic endothelial cells and participates in the regulation of cell-cell communication between lymphatic endothelial cells and other cells. The key regulatory gene KDR in the VEGF signaling pathway is highly expressed in CH patients and interacts with other differentially expressed EDN1, TAGLN, and CLDN5 Finally, we found that STAT1 could bind to the KDR promoter region, which may play an important role in promoting KDR up-regulation. CONCLUSION: Our comprehensive delineation of the cellular composition in tumor tissues of CH patients using single-cell RNA-sequencing identified the enrichment of lymphatic endothelial cells in CH and highlighted the activation of the VEGF signaling pathway in lymphoid endothelial cells as a potential modulator. The molecular and cellular pathogenesis of fetal cystic hygroma (CH) remains largely unknown. This study examined the distribution and gene expression signature of each cell subpopulation and the possible role of VEGF signaling in lymphatic endothelial cells in regulating the progression of CH by single-cell transcriptome sequencing. The enrichment of lymphatic endothelial cells in CH and the activation of the VEGF signaling pathway in lymphatic endothelial cells provide some clues to the pathogenesis of CH from the perspective of cell subpopulations.

Prenatal Diagnosis of Oral Teratoma by Ultrasound.

A pregnant woman had a normal second-trimester anatomic survey at 22 weeks gestation. She was revealed to have a fetal oral mass with polyhydramnios and invisible stomach bubble by ultrasound at 28 weeks. A 50 mm × 36 mm × 42 mm, solid mass was found in the fetal mouth, filling the entire oral cavity. Fetal magnetic resonance imaging showed a homogeneous solid mass in the oral cavity compressing the hypopharynx. At 33 weeks, preterm labor occurred because of the continuation of increased amniotic fluid volume, and a female infant was vaginally delivered. The infant died shortly after tracheal intubation attempt failed. Autopsy confirmed the prenatal sonographic finding. The final pathologic diagnosis was oral immature teratoma. Our study indicates that although oral teratomas are rare, they are readily apparent at prenatal sonographic examinations. Respiratory compromise is the frequent complication of oral teratomas, which is associated with high perinatal mortality.

Development of a nomogram for predicting acute pain among patients after abdominal surgery: A prospective observational study.

AIMS: To develop a nomogram to provide a screening tool for recognising patients at risk of post-operative pain undergoing abdominal operations. BACKGROUND: Risk prediction models for acute post-operative pain can allow initiating prevention strategies, which are valuable for post-operative pain management and recovery. Despite the increasing number of studies on risk factors, there were inconsistent findings across different studies. In addition, few studies have comprehensively explored predictors of post-operative acute pain and built prediction models. DESIGN: A prospective observational study. METHODS: A total of 352 patients undergoing abdominal operations from June 2022 to December 2022 participated in this investigation. A nomogram was developed for predicting the probability of acute pain after abdominal surgery according to the results of binary logistic regression. The nomogram's predictive performance was assessed by discrimination and calibration. Internal validation was performed via Bootstrap with 1000 re-samplings. RESULTS: A total of 139 patients experienced acute post-operative pain following abdominal surgery, with an incidence of 39.49%. Age <60, marital status (unmarried, divorced, or widowed), consumption of intraoperative remifentanil >2 mg, indwelling of drainage tubes, poor quality sleep, high pain catastrophizing, low pain self-efficacy, and PCIA not used were predictors of inadequate pain control in patients after abdominal surgery. Using these variables, we developed a nomogram model. All tested indicators showed that the model has reliable discrimination and calibration. CONCLUSIONS: This study established an online dynamic predictive model that can offer an individualised risk assessment of acute pain after abdominal surgery. Our model had good differentiation and calibration and was verified internally as a useful tool for risk assessment. RELEVANCE TO CLINICAL PRACTICE: The constructed nomogram model could be a practical tool for predicting the risk of experiencing acute post-operative pain in patients undergoing abdominal operations, which would be helpful to realise personalised management and prevention strategies for post-operative pain. REPORTING METHOD: The Strengthening the Reporting of Observational Studies in Epidemiology (STROBE) guidelines were adopted in this study. PATIENT OR PUBLIC CONTRIBUTION: Before the surgery, research group members visited the patients who met the inclusion criteria and explained the purpose and scope of the study to them. After informed consent, they completed the questionnaire. The patients' pain scores (VAS) were regularly assessed and documented by the bedside nurse for the first 3 days following surgery. Other information was obtained from medical records.

Pain Sensitivity and Acute Postoperative Pain in Patients Undergoing Abdominal Surgery: The Mediating Roles of Pain Self-Efficacy and Pain Catastrophizing.

BACKGROUND: Inadequately managed postoperative pain remains a common issue. Examining factors like pain sensitivity, pain catastrophizing, and pain self-efficacy can help improve postoperative pain management. While these factors have been identified as potential predictors of acute postoperative pain, their effects have been inconsistent. Few studies have explored the interactions between these factors. AIM: To investigate the influence of preoperative pain sensitivity, pain catastrophizing, and pain self-efficacy on acute postoperative pain in abdominal surgery patients and to determine the mediating roles of pain catastrophizing and pain self-efficacy in the relationship between pain sensitivity and acute postoperative pain, as per the gate control theory. METHODS: A total of 246 patients were enrolled in this study. General information was collected before surgery, and the Pain Sensitivity Questionnaire (PSQ), Pain Catastrophizing Scale (PCS), and Pain Self-Efficacy Questionnaire (PSEQ) were administered. After surgery, patients' average pain scores over the 24 hours were reported using the Numerical Rating Scale (NRS). Correlation analyses and a structural equation model were used to examine the relationships among these variables. RESULTS: NRS scores over 3 during the 24 hours post-surgery were reported by 21.54% of patients. Postoperative acute pain was found to be associated with pain sensitivity (rs = 0.463, p < .001), pain catastrophizing (rs = 0.328, p < .001), and pain self-efficacy (rs = -0.558, p < .001). A direct effect on postoperative acute pain was exerted by pain sensitivity (effect = 0.250, p = .001), along with indirect effects through: (A) pain catastrophizing (effect = 0.028, p = .001); (B) pain self-efficacy (effect = 0.132, p = .001); and (C) the chain mediation of pain self-efficacy and pain catastrophizing (effect = 0.021, p = .008). CONCLUSIONS: The severity of postoperative acute pain can be predicted by pain self-efficacy and pain catastrophizing, and the connection between moderate pain sensitivity and postoperative acute pain severity is mediated by them. Therefore, intervention programs aimed at boosting pain self-efficacy and reducing pain catastrophizing can enhance postoperative pain outcomes for abdominal surgery patients.

Hydrogel Crosslinked with Nanoparticles for Prevention of Surgical Hemorrhage and Recurrence of Hepatocellular Carcinoma.

Hepatocellular carcinoma (HCC) is acknowledged as an immunosuppressive neoplasm, whereby the inactive microenvironment facilitates immune tolerance and evasion of HCC. Post-surgical resected liver cancer exhibits a proclivity for relapse, rendering prevention of recurrence challenging as it may transpire at any point subsequent to surgery. Among the various anti-recurrence interventions, the primary clinical approach involving the administration of regimens atezolizumab and bevacizumab (A+T) is deemed the most efficacious in reversing the tumor microenvironment, albeit still lacking in complete satisfaction. Therefore, the objective is to utilize a recently developed block copolymer as a protective carrier for two specific monoclonal antibody drugs. Subsequently, a modified hemostatic hydrogel will be synthesized for application during hepatic surgery. The immunotherapy impact of this approach is significantly prolonged and intensified due to the combined hemostasis properties and controlled release of the constituents within the synthesized nanocomposite hydrogel. Furthermore, these nanocomposite hydrogels exhibit remarkable efficacy in preventing postoperative wound bleeding and substantially enhancing the safety of liver cancer resection. This research on the anti-recurrence hydrogel system presents a novel therapeutic approach for addressing local recurrence of liver cancer, potentially offering a substantial contribution to the field of surgical treatment for liver cancer in the future.

Prenatal diagnosis of autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants presented with thick nuchal translucency and cardiac abnormalities.

Noonan syndrome (NS) is a common clinical variable disease characterized by a number of features, mainly including congenital heart defects, short stature, and a variable degree of developmental delay. This disorder is transmitted mostly in an autosomal dominant manner and is genetically heterogeneous. We report three prenatal cases of LZTR1-related recessive NS. One case had a recurrent cystic hygroma at 13 weeks gestation and the pregnancy was terminated. Two cases had an increased nuchal translucency at 12 weeks' gestation, but a normal second trimester ultrasound; both presented with hypertrophic cardiomyopathy in the third trimester. The two infants were diagnosed with NS after birth. All of the three cases had invasive genetic investigations during pregnancy, and trio exome sequencing revealed biallelic likely pathogenic or pathogenic LZTR1 variants in the fetuses. All parents were LZTR1 variant carriers. Our report further strengthens the association of LZTR1 with an autosomal recessive form of NS. The affected fetuses are more likely to have cardiac anomalies. Clarification of molecular diagnosis has important implications in these families because they carry a 25% recurrence risk.

Influence of Ultra-High-Pressure Pretreatment Method on Chemical Constituents, Antioxidant and Cytoprotective Activities of Free, Esterified, and Bound Phenolics from Anneslea Fragrans Wall. Leaves.

Anneslea fragrans Wall., an edible and medicinal plant, is traditionally used to treat liver and gastrointestinal diseases. This paper aimed to investigate the influence of ultra-high pressure (UHP) pretreatment on the phenolics profiling, antioxidant, and cytoprotective activities of free (FP), esterified (EP), and bound (BP) phenolics from A. fragrans leaves. A total of 32 compounds were characterized and quantified. The davidigenin (44.46 and 113.37 mg/g extract) was the highest in A. fragrans leaves. The vitexin (9), afzelin (10), coreopsin (15), and davidigenin (28) were analyzed with MS2 fragment pathways. Results showed that UHP treated A. fragrans leaves had higher total phenolic (TPC) and total flavonoid (TFC) contents of FP, EP, and BP fractions than those in the raw leaves. Moreover, UHP pretreated A. fragrans leaves had higher scavenging activities on DPPH+• and ABTS+•, and inhibitory effects on the intracellular ROS generation in H2O2-induced HepG2 cells. UFP showed the highest inhibition of ROS production among the samples. Therefore, UHP pretreatment method might be used as an effective strategy for elevating the availabilities of A. fragrans leaves to develop functional foods.

Chronic cold stress-induced myocardial injury: effects on oxidative stress, inflammation and pyroptosis.

BACKGROUND: Hypothermia is a crucial environmental factor that elevates the risk of cardiovascular disease, but the underlying effect is unclear. OBJECTIVES: This study examined the role of cold stress (CS) in cardiac injury and its underlying mechanisms. METHODS: In this study, a chronic CS-induced myocardial injury model was used; mice were subjected to chronic CS (4°C) for three hours per day for three weeks. RESULTS: CS could result in myocardial injury by inducing the levels of heat shock proteins 70 (HSP70), enhancing the generation of creatine phosphokinase-isoenzyme (CKMB) and malondialdehyde (MDA), increasing the contents of tumor necrosis factor-α (TNF-α), high mobility group box 1 (HMGB1) interleukin1b (IL-1ß), IL-18, IL-6, and triggering the depletion of superoxide dismutase (SOD), catalase (CAT), and glutathione (GSH). Multiple signaling pathways were activated by cold exposure, including pyroptosis-associated NOD-like receptor 3 (NLRP3)-regulated caspase-1-dependent/Gasdermin D (GSDMD), inflammation-related toll-like receptor 4 (TLR4)/myeloid differentiation factor 88 (MyD88)-mediated nuclear factor kappa B (NF-κB), and mitogen-activated protein kinase (MAPK), as well as oxidative stress-involved thioredoxin-1/thioredoxin-interacting protein (Txnip) signaling pathways, which play a pivotal role in myocardial injury resulting from hypothermia. CONCLUSIONS: These findings provide new insights into the increased risk of cardiovascular disease at extremely low temperatures.

An integrated life-cycle greenhouse gas protocol accounting on oil palm trunk and empty fruit bunch biofuel production.

Improper discard of oil palm trunk and empty fruit bunch renders massive greenhouse gases. Turning these palm wastes into solid biofuels could aid in carbon reduction. The embodied environmental impacts of the solid biofuel densification process are neglected in carbon emission quantification studies applying Greenhouse Gas Protocol while the significance of classifying the system's direct and indirect carbon emissions were overlooked in those utilising life cycle assessment. Despite the prospect of both methodologies to complement their limitations for carbon emissions quantification, no study integrates both methodologies to investigate direct and indirect emissions systematically from a life cycle perspective. An integrated framework of life cycle assessment and Greenhouse Gas Protocol is developed to quantify the direct and indirect carbon emissions of oil palm trunk and empty fruit bunch densification from cradle-to-gate for three pellet plants in Indonesia and Malaysia. The emissions are categorised into three emission scopes: Scope 1, Scope 2, and Scope 3 according to the Greenhouse Gas Protocol, integrated with avoided emissions which are quantified via life cycle assessment. The pellet plants generate 534.7-732.3 kg CO2-eq/tonnepellet per hour, in which Scope 1 (i.e., direct emissions) is the major emission scope due to high emissions from wastewater production and drying fuel combustion. Washing equipment (169.2-439.0 kg CO2-eq/tonnepellet per hour) and burners (87.1-214.5 kg CO2-eq/tonnepellet per hour) are the hotspots found in the pellet plants. Producing empty fruit bunch pellets could reduce 62.0-74.1 % of emissions than landfilling the empty fruit bunch. Empty fruit bunch pellet and oil palm trunk pellet are recommended to co-fire with coal to phase down coal usage in achieving COP26 pledge. This study provides data-driven insights for quantifying carbon emissions through the integrated framework and could be a reference in future life cycle carbon footprint studies of the biomass densification process.

Mesoporous Nanoparticles for Diagnosis and Treatment of Liver Cancer in the Era of Precise Medicine.

Primary liver cancer is the seventh-most-common cancer worldwide and the fourth-leading cause of cancer mortality. In the current era of precision medicine, the diagnosis and management of liver cancer are full of challenges and prospects. Mesoporous nanoparticles are often designed as specific carriers of drugs and imaging agents because of their special morphology and physical and chemical properties. In recent years, the design of the elemental composition and morphology of mesoporous nanoparticles have greatly improved their drug-loading efficiency, biocompatibility and biodegradability. Especially in the field of primary liver cancer, mesoporous nanoparticles have been modified as highly tumor-specific imaging contrast agents and targeting therapeutic medicine. Various generations of complexes and structures have been determined for the complicated clinical management requirements. In this review, we summarize these advanced mesoporous designs in the different diagnostic and therapeutic fields of liver cancer and discuss the relevant advantages and disadvantages of transforming applications. By comparing the material properties, drug-delivery characteristics and application methods of different kinds of mesoporous materials in liver cancer, we try to help determine the most suitable drug carriers and information media for future clinical trials. We hope to improve the fabrication of biomedical mesoporous nanoparticles and provide direct evidence for specific cancer management.

Prenatal sonographic findings in a cohort of foetuses with a confirmed 22q11.2 microdeletion at a single Chinese Tertiary Centre.

The aim of this study was to present prenatal ultrasound findings, molecular testing results and pregnancy outcomes of cases with 22q11.2 deletion (del22q11.2) diagnosed prenatally. A total of 76 foetuses were included. All cases were diagnosed by using chromosomal microarray analysis. Data on prenatal diagnosis, ultrasound findings, pregnancy outcomes and inheritance of del22q11.2 were reviewed. Congenital heart defects (CHDs) were the most common indications (47/76, 61.8%) for prenatal testing and were isolated in 52.6% (40/76). The constitution of CHDs comprised predominantly of conotruncal defects (61.7%; 29/47). Other cardiac anomalies were encountered in 38.3% (18/47) of cases. Extracardiac findings, including unilateral multicystic dysplastic kidney, clubfoot, increased nuchal translucency, intrauterine growth retardation and polyhydramnios, were found in 31.6% (24/76) of cases, and were combined with CHDs in 7 cases. Twelve cases had normal sonographic scans at the time of prenatal diagnosis. Foetal CHDs, especially conotruncal defects, are the most predictive association with del22q11.2. The information about del22q11.2 should also be part of the contents in comprehensive pre-test counselling even for those who are referred for diagnostic testing with foetal extracardiac findings.Impact statementWhat is already known on this subject? 22q11.2 deletion (del22q11.2) is the most common microdeletion syndrome in humans. At present, the main indications for prenatal testing for del22q11.2 are pregnancies of abnormal sonographic findings, especially foetal congenital heart defects.What do the results of this study add? Many extracardiac malformations, including some lethal or mildly non-specific ones, could be associated with foetal del22q11.2. There were also del22q11.2 foetuses had normal sonographic scans at the time of prenatal diagnosis.What are the implications of these findings for clinical practice and/or further research? The information about del22q11.2 should also be part of the contents in comprehensive pre-test counselling even for those who are referred for diagnostic testing with indications other than foetal cardiac anomalies.

Relationship among self-concept clarity, social support, and psychological resilience in Chinese patients with an enterostomy: A cross-sectional study and structural equation model analysis.

PURPOSE: This study was to explore the relationship between self-concept clarity, social support, and psychological resilience in Chinese enterostomy patients. METHODS: A cross-sectional, descriptive study was conducted from October 2019 to April 2020 among enterostomy patients visiting the stoma clinic and inpatients with an enterostomy in general surgery of three tertiary grade A hospitals in Guangzhou, China. Patients (n=201) were required to complete paper questionnaires, including sociodemographic information, the 10-Item Resilience Scale Specific to Cancer, Self-concept Clarity Scale, and Social Support Rating Scale. Multiple linear regression analyses and structural equation modeling were conducted to explore the effect of self-concept clarity and social support on psychological resilience. RESULTS: Psychological resilience was at a median level among enterostomy patients, with a mean score of 38.21 (SD, 7.24). Education level (ß = 1.032, P = .004), own acceptance of stoma (ß = 2.445, P < .001), social support (ß = 206, P = .001) and self-concept clarity (ß = 0.285, P < .001) were factors related to psychological resilience, explaining 33.1% of the variance of psychological resilience. It was also shown that self-concept clarity exerted its direct positive effect on social support (ß = 0.098, SE = 0.025, BC 95%CI = 0.047/0.143), and it also had an indirect positive effect on psychological resilience through mediating social support (ß = 0.193, SE = 0.033, BC 95%CI = 0.121/0.245). CONCLUSIONS: This study suggests that self-concept clarity has an indirect positive effect on psychological resilience by influencing social support in enterostomy patients. Medical staff should strive to improve the self-concept clarity as a new means to enhance patients' psychological resilience, especially focusing on patients' social support, education level and own acceptance of enterostomy.

Metformin inhibits melanoma cell metastasis by suppressing the miR-5100/SPINK5/STAT3 axis.

Melanoma is the most lethal skin cancer characterized by its high metastatic potential. It is urgent to find novel therapy strategies to overcome this feature. Metformin has been confirmed to suppress invasion and migration of various types of cancer. However, additional mechanisms underlying the antimetastatic effect of metformin on melanoma require further investigation. Here, we performed microarray analysis and uncovered an altered mRNA and miRNA expression profile between melanoma and nevus. Luciferase reporter assay confirmed that miR-5100 targets SPINK5 to activate STAT3 phosphorylation. Migration and wound healing assays showed that the miR-5100/SPINK5/STAT3 axis promotes melanoma cell metastasis; the mechanism was proven by initiation of epithelial-mesenchymal transition. Co-immunoprecipitation (Co-IP) further confirmed an indirect interaction between SPINK5 and STAT3. Furthermore, metformin dramatically inhibited miR-5100/SPINK5/STAT3 pathway, and decreased B16-F10 cell metastasis to lung in C57 mouse module. Intriguingly, pretreatment of metformin before melanoma cell injection improved this effect further. These findings exposed the underlying mechanisms of action of metformin and update the use of this drug to prevent metastasis in melanoma.

Responsive Hydrogels Based on Triggered Click Reactions for Liver Cancer.

Globally, liver cancer, which is one of the major cancers worldwide, has attracted the growing attention of technological researchers for its high mortality and limited treatment options. Hydrogels are soft 3D network materials containing a large number of hydrophilic monomers. By adding moieties such as nitrobenzyl groups to the network structure of a cross-linked nanocomposite hydrogel, the click reaction improves drug-release efficiency in vivo, which improves the survival rate and prolongs the survival time of liver cancer patients. The application of a nanocomposite hydrogel drug delivery system can not only enrich the drug concentration at the tumor site for a long time but also effectively prevents the distant metastasis of residual tumor cells. At present, a large number of researches have been working toward the construction of responsive nanocomposite hydrogel drug delivery systems, but there are few comprehensive articles to systematically summarize these discoveries. Here, this systematic review summarizes the synthesis methods and related applications of nanocomposite responsive hydrogels with actions to external or internal physiological stimuli. With different physical or chemical stimuli, the structural unit rearrangement and the controlled release of drugs can be used for responsive drug delivery in different states.

Characteristics of lingual thyroglossal duct cysts under flexible laryngoscopy and treatment approaches.

OBJECTIVES: Lingual thyroglossal duct cysts (LTGDCs) are clinically rare and easily misdiagnosed as epiglottic cysts. Misdiagnosis leads to mistreatment; thus,simple diagnosis is important. This study aimed to investigate the characteristics of LTGDCs with flexible laryngoscopy and imaging, improve their diagnosis and explore surgical methods for patients undergoing an initial operation and patients with recurrence. METHODS: In total, 10 patients with LTGDCs were admitted from April 2014 to December 2020.By reviewing the diagnosis and treatment of the first typical case, the characteristics of LTGDC under flexible laryngoscopy were summarized. According to these characteristic manifestations, a clinical diagnosis of LTGDC was made correctly in the other 9 patients. All 10 patients underwent preoperative CT of the neck and sagittal reconstruction and thyroid ultrasound. RESULTS: Of the 10 patients, the first 2 patients had recurrent LTGDCs after several operations and underwent Sistrunk surgery. The remaining 8 patients were newly diagnosed and underwent endoscopic radical resection with low-temperature coblation; of these patients, 7 had no recurrence, and 1 underwent Sistrunk surgery after developing short-term recurrence. All patients were followed up for 5 months to 6 years after the last operation and were without recurrence. CONCLUSION: LTGDCs are easily misdiagnosed as epiglottic cysts in the clinic. A correct clinical diagnosis can be made based on the characteristics according to flexible laryngoscopy. To determine the relationship between the cyst and hyoid bone, CT was performed. The surgical method was chosen based on the relationship between the cyst and hyoid bone and history of recurrence.

Detection of Parental Contribution to Molar Genome Leads to Diagnosis of Recurrent Hydatidiform Mole in a Family with NLRP7 Variants.

Introduction: Genetically, complete hydatidiform mole (CHM) is androgenetic diploid, containing two sets of paternal chromosomes. In most cases, recurrent HM (RHM) is CHM but has diploid biparental chromosome constitution. Case report: We report a mother with RHM, both with biparental diploidy. The mother was compound heterozygous for two variants, c.1720dup, p.(C574Lfs*4) and c.2165A > G, p.(D722G) of the NLRP7 gene, as was a brother who fathered 2 normal pregnancies. Conclusion: The genotype study should be obtained for patients of CHM, even in their first pregnancy, followed by genetic screening for maternal-effect variants in those with biparental moles. This strategy will identify patients in their first pregnancy with HM that have a decreased chance for a normal pregnancy, to allow genetic counseling, perhaps utilizing a donor egg.

Impact of cell-free fetal DNA on early invasive prenatal diagnosis at a Chinese reference maternal medicine center.

PURPOSE: The aim of this study is to evaluate the impact of the utility of maternal cell-free DNA (cfDNA) on the number of chorionic villus sampling (CVS) at a mainland Chinese maternal hospital. METHODS: This was a retrospective cohort study conducted in consecutive singleton pregnancies that underwent CVS between the 11th and 14th gestational weeks at a Chinese maternal hospital during a nine-year period. The indications, complications and prenatal diagnosis results were evaluated. RESULTS: This study consisted of 5108 CVS procedures, including 2000 performed for fetal karyotyping, and 3108 performed for fetal single-gene genotyping. During the period with the introduction of cfDNA, the proportion of the number of CVS procedures for the indication of positive serum screening declined significantly, and abnormal ultrasound was the main indication for CVS performed for fetal karyotyping. Thalassemia was always the main indication for CVS, accounting for 50.5% of all CVS cases. CONCLUSIONS: cfDNA has changed the spectrum of CVS indications. CVS is now the invasive procedure performed for patients with a fetus having a very high risk of fetal genetic defects, including fetuses having major abnormal ultrasound or having a risk of single-gene disorder inherited from their parents.